Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000430967 | SCV000510782 | likely benign | not provided | 2016-11-07 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000430967 | SCV001100675 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000430967 | SCV003916481 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | SLC6A17: BS2 |
Genome- |
RCV003343808 | SCV004050629 | benign | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | 2023-04-11 | criteria provided, single submitter | clinical testing |